Can MCTD and Ehlers-Danlos Syndrome Cause Venous Varices?
Neither Mixed Connective Tissue Disease (MCTD) nor Ehlers-Danlos syndrome are established causes of venous varices through portal hypertension, as varices develop specifically when hepatic venous pressure gradient reaches 10-12 mmHg due to cirrhosis or other causes of intrahepatic resistance—mechanisms not present in these connective tissue disorders. 1
Portal Hypertension and Varix Formation
Venous varices, particularly gastroesophageal varices, form through a specific pathophysiologic mechanism:
Portal pressure must exceed 10-12 mmHg to develop varices, resulting from increased intrahepatic vascular resistance (primarily from cirrhosis with fibrous tissue and regenerative nodules) plus increased portal blood inflow from splanchnic vasodilation 1
Cirrhosis is the predominant cause, present in approximately 50% of patients who develop varices, with prevalence correlating to disease severity (40% in Child A vs 85% in Child C patients) 1
Portal hypertension requires either structural liver disease (cirrhosis, bridging fibrosis) or vascular obstruction (portal vein thrombosis, Budd-Chiari syndrome, splenic vein thrombosis) 1
Why MCTD and EDS Don't Cause Portal Hypertension
Neither condition produces the necessary pathophysiology:
MCTD is not mentioned in any major guidelines on portal hypertension or varices as a causative factor 1
Ehlers-Danlos syndrome affects arterial vessels (aneurysms, dissections, ruptures) and medium-to-large arteries, not the hepatic venous system or portal circulation 2, 3, 4, 5
The vascular complications in vascular EDS involve arterial fragility and rupture, not venous compression or hepatic resistance 4, 5
Vascular Compression Scenarios
Vascular compression causing varices would require external compression of portal or hepatic veins, which is not a feature of either condition:
Recognized causes of vascular compression leading to portal hypertension include Budd-Chiari syndrome (hepatic vein thrombosis/obstruction) and portal vein thrombosis from prothrombotic disorders (Factor V Leiden, prothrombin G20210A, myeloproliferative neoplasms) 1
EDS patients can develop deep vein thrombosis (one case report of posterior tibial artery pseudoaneurysm compressing veins), but this is peripheral venous compression, not portal system involvement 6
Arterial complications in EDS affect medium-sized vessels and occasionally abdominal aortic aneurysms, but do not compress portal venous structures 7
Anorectal Varices: A Special Consideration
If the question concerns anorectal varices specifically:
Anorectal varices occur in up to 89% of patients with portal hypertension when portal pressure exceeds 10 mmHg, but serious bleeding occurs in less than 5% 1
These still require underlying portal hypertension from cirrhosis or vascular thrombosis, not connective tissue disease 1
"Downhill varices" in the upper esophagus can occur from superior vena cava obstruction (as seen in Fontan circulation), but this mechanism is not associated with MCTD or EDS 1
Clinical Pitfalls
Do not attribute varices to connective tissue disorders without investigating standard causes:
Obtain liver stiffness measurement and platelet count—if liver stiffness <20 kPa and platelets >150,000/mm³, high-risk varices are unlikely (<5% probability) 1
Perform screening endoscopy when cirrhosis is diagnosed or suspected, regardless of connective tissue disease presence 1
Investigate prothrombotic disorders (Factor V Leiden, prothrombin G20210A, myeloproliferative neoplasms, paroxysmal nocturnal hemoglobinuria) if portal or hepatic vein thrombosis is found 1
In EDS patients with vascular events, focus surveillance on arterial complications (aneurysms, dissections) using MR angiography from head to pelvis, not venous varix screening 3, 5